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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome

Authors :
International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC)
Eric Legius
Ludwine Messiaen
Pierre Wolkenstein
Patrice Pancza
Robert A. Avery
Yemima Berman
Jaishri Blakeley
Dusica Babovic-Vuksanovic
Karin Soares Cunha
Rosalie E. Ferner
Michael J. Fisher
Jan M. Friedman
David H. Gutmann
Hildegard Kehrer-Sawatzki
Bruce R. Korf
Victor Felix Mautner
Sirkku Peltonen
Katherine A. Rauen
Vincent Riccardi
Elizabeth Schorry
Anat Stemmer-Rachamimov
David A. Stevenson
Gianluca Tadini
Nicole J. Ullrich
David Viskochil
Katharina Wimmer
Kaleb Yohay
Alicia Gomes
Justin T. Jordan
Victor Mautner
Vanessa L. Merker
Miriam J. Smith
David Stevenson
Monique Anten
Arthur Aylsworth
Diana Baralle
Sebastien Barbarot
Fred Barker
Shay Ben-Shachar
Amanda Bergner
Didier Bessis
Ignacio Blanco
Catherine Cassiman
Patricia Ciavarelli
Maurizio Clementi
Thierry Frébourg
Marco Giovannini
Dorothy Halliday
R. (Rianne) Oostenbrink
B (Bruce) Poppe
International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC)
Eric Legius
Ludwine Messiaen
Pierre Wolkenstein
Patrice Pancza
Robert A. Avery
Yemima Berman
Jaishri Blakeley
Dusica Babovic-Vuksanovic
Karin Soares Cunha
Rosalie E. Ferner
Michael J. Fisher
Jan M. Friedman
David H. Gutmann
Hildegard Kehrer-Sawatzki
Bruce R. Korf
Victor Felix Mautner
Sirkku Peltonen
Katherine A. Rauen
Vincent Riccardi
Elizabeth Schorry
Anat Stemmer-Rachamimov
David A. Stevenson
Gianluca Tadini
Nicole J. Ullrich
David Viskochil
Katharina Wimmer
Kaleb Yohay
Alicia Gomes
Justin T. Jordan
Victor Mautner
Vanessa L. Merker
Miriam J. Smith
David Stevenson
Monique Anten
Arthur Aylsworth
Diana Baralle
Sebastien Barbarot
Fred Barker
Shay Ben-Shachar
Amanda Bergner
Didier Bessis
Ignacio Blanco
Catherine Cassiman
Patricia Ciavarelli
Maurizio Clementi
Thierry Frébourg
Marco Giovannini
Dorothy Halliday
R. (Rianne) Oostenbrink
B (Bruce) Poppe
Publication Year :
2021

Abstract

Purpose: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods: We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy

Details

Database :
OAIster
Notes :
Genetics in Medicine vol. 23 no. 8, pp. 1506-1513
Publication Type :
Electronic Resource
Accession number :
edsoai.on1273464102
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1038.s41436-021-01170-5